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Paper Details

Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia.
Mol Genet Metab
1
2020
Carnitine, Methylcitrate, PA, PCC, PCC deficiency, PCCB c, PCCB c.1606A, Propionic acidemia, acylcarnitines, alpha-ketoacid, amino acids, branched chain amino acid, c.1606A > G, carnitine, deficiency of mitochondrial propionyl-CoA carboxylase, methylcitrate, neurodevelopmental and cardiac morbidity, p.Asn536Asp, patients, propionic acidemia, propionyl-CoA, propionylcarnitine
Author NameAffiliation
Olivia WengerNew Leaf Clinic, Akron Children's Hospital
Devyani Chowdhury
Emma L BapleInstitute of Biomedical and Clinical Science, University of Exeter Medical School
Kevin A StraussClinic for Special Children, Penn Medicine-Lancaster General Hospital, University of Massachusetts School of Medicine
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Datasets

Release 1.2